Proprotein convertase subtilisin/kexin type 9 related familial hypercholesterolaemia

Autor: Charles Van Heyningen, Sally L Hanton

Publikováno v: The British Journal of Diabetes & Vascular Disease. 12:256-259

Gain-of-function proprotein convertase subtilisin/kexin type 9 (PCSK9) mutations are an uncommon cause of familial hypercholesterolaemia (FH) with a reported frequency of less than 2% in patients with FH in the United Kingdom. We have found a high pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8d1b249f93dc1cad618b3c95f20738f9
https://doi.org/10.1177/1474651412463256

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody

Autor: Bertrand Cariou, Yassine Zair, Hisashi Makino, Paul N. Hopkins, Alain Carrié, Sara Hamon, Bernard Chanu, Michel Farnier, Kunimasa Yagi, Hiroshi Mabuchi, Yee P. Teoh, Michel Krempf, Matthieu Pichelin, Neil Stahl, Johanna Mendoza, George D. Yancopoulos, Masakazu Yamagishi, Charles van Heyningen, Catherine Boileau, Marianne Abifadel, A. David Marais, Sigrid W. Fouchier, Barbara Sjouke, Valérie Carreau, Masa-aki Kawashiri, Eric Bruckert, Scott Mellis, Mafalda Bourbon, Hayato Tada, Yoshihiro Miyamoto, Yunling Du, Jean-Pierre Rabès, Gary Swergold, Joep C. Defesche, Mariko Harada-Shiba, Ichiro Kishimoto, Shoji Katsuda, Trond P. Leren, Handrean Soran, Atsushi Nohara, Gérald Luc, Gilles Lambert

Publikováno v: Circulation: Genomic and Precision Medecine
Circulation: Genomic and Precision Medecine, 2015, Equipe 5, 8 (6), pp.823--831. ⟨10.1161/CIRCGENETICS.115.001129⟩
Circulation. Cardiovascular Genetics 6 (8), 823-831. (2015)
Circulation. Cardiovascular Genetics
Circulation. Cardiovascular genetics, 8(6), 823-831. Lippincott Williams and Wilkins

Supplemental Digital Content is available in the text.
Background— Patients with PCSK9 gene gain of function (GOF) mutations have a rare form of autosomal dominant hypercholesterolemia. However, data examining their clinical characteristics an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cf4b789f792de49cf4c28ca3d17c5d1
https://hal.archives-ouvertes.fr/hal-01830975/file/823.full.pdf

Progressive vascular disease in homozygous familial hypercholesterolaemia despite apheresis and heart and liver transplantation

Autor: Charles van Heyningen

Publikováno v: The British Journal of Diabetes & Vascular Disease. 11:270-272

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ea271d6b44836ffc0ebbbff39978a113
https://doi.org/10.1177/1474651411422652

Lipid metabolism

Autor: Charles, van Heyningen, David, Wile

Publikováno v: Current Opinion in Lipidology. 17:483-485

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e39c61a1e4366d31c9a222f3ff1bfc3c
https://doi.org/10.1097/01.mol.0000236375.58002.4b

Validation of a prediction score model to distinguish acute coronary syndromes from other conditions causing raised cardiac troponin T levels

Autor: Charles van Heyningen, Gopala Krishna B. Rao, Yawer Saeed, Derek R. Robinson, Peter Sze Chai Wong, Antony Leslie Innasimuthu

Publikováno v: Coronary artery disease. 21(6)

Objective: Serum cardiac troponins can be elevated in acute coronary syndromes (ACS) and other non-ACS conditions. We investigated the usefulness of a prediction score model comprising clinical variables to distinguish patients with ACS from other no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f143edbe3cb68ced329caf8ade06a7ef
https://pubmed.ncbi.nlm.nih.gov/20661138